Results 41 to 50 of about 5,402,382 (253)

Magnetic resonance imaging in prenatal diagnosis of tuberous sclerosis complex: a case report

Digital Diagnostics
Early detection of orphan diseases, including tuberous sclerosis complex, requires a multidisciplinary approach and the integration of new prenatal diagnostic methods, utilizing ultrasound and magnetic resonance imaging.
Tatiana V. Ivlyukova, Daria D. Bugrova, Alexander A. Melnikov, Larisa D. Belotserkovtseva, Natalia V. Klimova   +4 more
doaj   +1 more source

Multiple cardiac rhabdomyomas not associated with tuberous sclerosis in a dizygotic twins: a case report

Journal of Medical Case Reports, 2021
Background Rhabdomyomas comprise the majority of cardiac tumors in fetuses and are found in association with tuberous sclerosis complex. More than 90% of fetuses and neonates with multiple cardiac rhabdomyomas have signs of tuberous sclerosis complex ...
Koji Yamamoto, Yohei Maki, Yuichiro Sato, Hiroyuki Tanaka, Tsuyoshi Fukushima, Junko Ushijima, Seishi Furukawa, Hiroshi Sameshima, Hiroaki Kataoka   +8 more
doaj   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Tuberous sclerosis complex and diffuse lipomatosis: Case report of a rare association

Indian Dermatology Online Journal, 2018
Lipomatosis is characterized by diffuse infiltration of adipocytes in a tissue. A young male patient presented for evaluation of unilateral limb swelling.
Ankit Mittal, Keshavamurthy Vinay, Dipankar De, Sanjeev Handa, Anindita Sinha   +4 more
doaj   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

The effect of pregnancy on renal angiomyolipoma; a world of knowledge to gain, specifically in women with TSC

BMC Nephrology
Background Women are counseled preconceptionally about the potential risks of rAML progression and chance of complications during and due to pregnancy. However, a systematic search investigating the evidence on which this advice is based does not exist ...
Marlou W. Kluiving, Evelien F. H. I. Peeters, Titia A. Lely, Niek van Oorschot, Wendela L. de Ranitz-Greven   +4 more
doaj   +1 more source

Attrition in a telehealth caregiver-mediated behavioral intervention for children with tuberous sclerosis complex: A mixed-methods study. [PDF]

Dev Med Child Neurol
Exploratory quantitative analyses suggested that higher seizure severity and COVID‐era enrollment were associated with lower intervention completion, while qualitative findings identified cumulative caregiver burden, medical instability, competing demands, and perceived intervention fit as contributors to attrition.
Tillis CH, Kasari C, McDonald N, Vobecky M, Pizzano M, Panganiban J, Gharapetian B, Tran EY, Nelson CA, Thiele EA, Jeste S.   +10 more
europepmc   +2 more sources

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source

Multifocal angiomyolipoma involving kidney and regional lymph nodes in patient with tuberous sclerosis complex- A Rare case with review of literature

Asian Journal of Medical Sciences, 2015
Tuberous sclerosis complex is rare neurocutaneous syndrome involving central nervous system and lesions in skin. Tuberous sclerosis with multifocal angiomyolipoma involving kidney and lymph nodes is even rarer.
Prasad Mylarappa
doaj   +1 more source

Complementing Engel Classification: Postoperative Scalp EEG as an Objective Indicator in SEEG‐Guided Radiofrequency Thermocoagulation—A Seizure‐Onset Pattern‐Based Stratified Analysis—

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) is a minimally invasive therapy for drug‐resistant focal epilepsy. However, the relationship between specific seizure‐onset patterns (SOPs), particularly low‐voltage fast activity (LVFA), and postoperative scalp EEG normalization remains inadequately ...
Yi‐qing Yang, Rui Zhang, Haiyan Ma, Lu Yang, Xuefeng Qu, Qiqi Chen, Yan Zhang   +6 more
wiley   +1 more source